Trends in age at diagnosis of Turner syndrome

The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0–18.3) years. Patients with 45,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a p...

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Bibliographic Details
Published in:Archives of disease in childhood 2005-03, Vol.90 (3), p.267-268
Main Authors: Massa, G, Verlinde, F, De Schepper, J, Thomas, M, Bourguignon, J P, Craen, M, de Zegher, F, François, I, Du Caju, M, Maes, M, Heinrichs, C
Format: Article
Language:English
Subjects:
Adolescent
Adolescents
Age Factors
Age of Onset
Biological and medical sciences
Body Height
Child
Child development
Child, Preschool
Diagnosis
Drug therapy
Ear diseases
Early Diagnosis
Endocrinologie, métabolisme & nutrition
Endocrinology
Endocrinology, metabolism & nutrition
Female
Females
Follow-Up Studies
Genetic disorders
Girls
Growth hormone
Growth Hormone - therapeutic use
Gynecology. Andrology. Obstetrics
Human health sciences
Humans
Infant
Infant, Newborn
Karyotypes
Karyotyping
Karyotyping - methods
Logical Thinking
Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
Medical sciences
Methods
Patient outcomes
Patients
Pediatrics
Puberty
Sciences de la santé humaine
Short Report
short stature
Somatotropin
Trends
Turner Syndrome
Turner Syndrome - diagnosis
Turner Syndrome - drug therapy
Turner Syndrome - genetics
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Summary:The age at diagnosis of 242 girls with Turner syndrome (TS) treated in Belgium with growth hormone between 1991 and 2002 was evaluated. The median (range) age at diagnosis was 6.6 (0–18.3) years. Patients with 45,X karyotype were diagnosed earlier than patients with other karyotypes. Compared to a previous survey, performed on 100 patients 12 years earlier, more patients were diagnosed during infancy and childhood, and less during adolescence. However, in 22% of the girls the diagnosis was made after the age of 12 years; these girls showed the largest height deficit. As early diagnosis has several potential advantages we recommend that a cytogenetic analysis should be considered in all girls with unexplained short stature with height below –2 SD of the mean for age or below the parent specific lower limit of height.
ISSN:0003-9888
1468-2044
1468-2044
DOI:10.1136/adc.2004.049817